PMID- 19368909
OWN - NLM
STAT- MEDLINE
DCOM- 20090729
LR  - 20220331
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 92
IP  - 1
DP  - 2009 Jul
TI  - A de novo complex chromosome rearrangement involving three chromosomes (2, 13, 
      and 18) in an oligospermic male.
PG  - 391.e9-391.e12
LID - 10.1016/j.fertnstert.2009.02.042 [doi]
AB  - OBJECTIVE: To determine an unusual complex chromosome rearrangement found in a 
      man with oligospermia with a normal phenotype. DESIGN: Case report with a review 
      of the literature. SETTING: Academic research environment. PATIENT(S): A man with 
      oligospermia but otherwise apparently healthy. INTERVENTION(S): Peripheral blood 
      lymphocytes were used for karyotyping, and metaphases were analyzed by the 
      fluorescence in situ hybridization (FISH) procedure. Further characterization of 
      the karyotype was done by using multicolor banding (MCB) probes. MAIN OUTCOME 
      MEASURE(S): Physical examination, semen analysis, GTG banding, FISH, MCB. 
      RESULT(S): The semen analysis revealed oligospermia. The lymphocytic karyotype 
      detected an unusual complex chromosome rearrangement involving chromosomes 2, 13, 
      and 18 determined by banding cytogenetics. Karyotype was established as 
      46,XY,t(2;13;18)ins(2;13)(2qter-->2p25.1::13q13-->13q22::18q12.3-->18qter;13pter-->13q13::2p25-->2pter;18pter-->18q12.3::13q22-->13qter) 
      after MCB analysis. CONCLUSION(S): The association of an unusual complex 
      chromosome rearrangement with three recurrent spontaneous abortions was reported.
FAU - Ergul, Emel
AU  - Ergul E
AD  - Department of Medical Biology and Genetics, Faculty of Medicine, University of 
      Kocaeli, Kocaeli, Turkey. ergulemel@yahoo.com
FAU - Liehr, Thomas
AU  - Liehr T
FAU - Mrasek, Kristin
AU  - Mrasek K
FAU - Sazci, Ali
AU  - Sazci A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090414
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Abortion, Spontaneous/genetics
MH  - Adult
MH  - *Chromosomes, Human, Pair 13
MH  - *Chromosomes, Human, Pair 2
MH  - *Chromosomes, Human, Pair 8
MH  - Cytogenetics
MH  - Female
MH  - *Gene Rearrangement
MH  - Humans
MH  - Karyotyping
MH  - Male
MH  - Oligospermia/*genetics
EDAT- 2009/04/17 09:00
MHDA- 2009/07/30 09:00
CRDT- 2009/04/17 09:00
PHST- 2009/01/02 00:00 [received]
PHST- 2009/02/12 00:00 [revised]
PHST- 2009/02/12 00:00 [accepted]
PHST- 2009/04/17 09:00 [entrez]
PHST- 2009/04/17 09:00 [pubmed]
PHST- 2009/07/30 09:00 [medline]
AID - S0015-0282(09)00432-4 [pii]
AID - 10.1016/j.fertnstert.2009.02.042 [doi]
PST - ppublish
SO  - Fertil Steril. 2009 Jul;92(1):391.e9-391.e12. doi: 
      10.1016/j.fertnstert.2009.02.042. Epub 2009 Apr 14.